Variants
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IDH1 Gene

isocitrate dehydrogenase (NADP(+)) 1

ALIAS SYMBOLS

  • None

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Description

The IDH1 gene provides instructions for making an enzyme called isocitrate dehydrogenase 1. This enzyme is primarily found in the fluid-filled space inside cells (the cytoplasm). It is also found in cellular structures called peroxisomes, which are small sacs within cells that process many types of molecules. In both the cytoplasm and in peroxisomes, isocitrate dehydrogenase 1 converts a compound called isocitrate to another compound called 2-ketoglutarate. This reaction also produces a molecule called NADPH, which is necessary for many cellular processes. The NADPH produced from isocitrate dehydrogenase 1 is involved in the breakdown of fats for energy, and it also protects cells from potentially harmful molecules called reactive oxygen species.

CHROMOSOME

2


LOCATION

q34


LOCUS TYPE

gene with protein product

VARIANTS

33

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Phenotypes

External Links

  • HGNC

    HGNC:5382

  • NCBI

    3417

  • OMIM

    147700

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